Variant #0007485984 (NC_000011.9:g.77531713G>A, NM_016578.3:c.48C>T (RSF1))

Chromosome 11
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77531713G>A
DB-ID -
dbSNP ID rs767428558
gnomAD frequency 9/149270
gnomAD homozygote count 0/74626
Average frequency (gnomAD v.2.1.1) Retrieve
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RSF1 NM_016578.3 ./. c.48C>T r.(?) p.(Cys16=)
AAMDC NM_024684.2 ./. c.-593G>A r.(=) p.(=)